R34* (p.Arg34Ter) variant of ITGB3 (Integrin beta-3)
R34* (p.Arg34Ter) in ITGB3 (Integrin beta-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs75427428
- ClinGen CA8622852
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10145
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available